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Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. [electronic resource] by
- Serrano, Mercedes
- Rebollo, Mónica
- Depienne, Christel
- Rastetter, Agnès
- Fernández-Álvarez, Emilio
- Muchart, Jordi
- Martorell, Loreto
- Artuch, Rafael
- Obeso, José A
- Pérez-Dueñas, Belén
Producer: 20130214
In:
Movement disorders : official journal of the Movement Disorder Society vol. 27
Availability: No items available.
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A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. [electronic resource] by
- Ribasés, Marta
- Serrano, Mercedes
- Fernández-Alvarez, Emilio
- Pahisa, Sandra
- Ormazabal, Aida
- García-Cazorla, Angels
- Pérez-Dueñas, Belén
- Campistol, Jaume
- Artuch, Rafael
- Cormand, Bru
Producer: 20071218
In:
Molecular genetics and metabolism vol. 92
Availability: No items available.
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[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene]. [electronic resource] by
- Sempere, Angela
- Fons, Carmen
- Arias, Angela
- Rodríguez-Pombo, Pilar
- Merinero, Begoña
- Alcaide, Patricia
- Capdevila, Antoni
- Ribes, Antonia
- Duque, Rosario
- Eirís, Jesús
- Poo, Pilar
- Fernández-Alvarez, Emilio
- Campistol, Jaume
- Artuch, Rafael
Producer: 20100203
In:
Medicina clinica vol. 133
Availability: No items available.
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18.
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[Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier]. [electronic resource] by
- Ormazabal, Aida
- García Cazorla, Angels
- Pérez Dueñas, Belén
- Pineda, Mercé
- Ruiz, Angeles
- López Laso, Eduardo
- García Silva, Maite
- Carilho, Inés
- Barbot, Clara
- Cormand, Bru
- Ribases, Marta
- Moller, Lisbeth
- Fernández Alvarez, Emilio
- Campistol, Jaume
- Artuch, Rafael
Producer: 20061108
In:
Medicina clinica vol. 127
Availability: No items available.
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